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Kearns-Sayre Syndrome

Kearns-Sayre Syndrome Causes

Kearns-Sayre syndrome happens due to the 5,000 base deletion in the mitochondrial DNA.

Kearns-Sayre Syndrome Definition

Kearns-Sayre syndrome is a neuromuscular disorder of a genetic origin. However, it is different from other mitochondrial disorders because it occurs periodically and not maternally inherited. Onset of the disorder usually occurs before the person reaches the age of 20.

Kearns-Sayre Syndrome Symptoms and Signs

Patients suffering from Kearns –Sayre syndrome presents the following manifestations: * Abnormal eye conditions including progressive external ophthalmoplegia, which is weakness in the eye muscles controlling its movement and degeneration of the retina. * Weakness of the skeletal muscles * Difficulty in swallowing * Pigmentation in the retina of the eye * Heart conduction defects * Short stature * Cognitive dysfunction * Loss of hearing or deafness * Impaired ability to control voluntary movements and failure of muscular coordination (ataxia) * Paralysis of the muscles of the eye * Recurring inflammation of the retina

Kearns-Sayre Syndrome Treatment

Symptomatic and supportive treatment is usually the medical approach essential for Kearns-Sayre Syndrome because there is no specific treatment that can cure Kearns-Sayre syndrome. Due to this fact, palliative medications to decrease the gravity of the symptoms is the only medical care available for this disorder

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